Mutagenetix > Incidental Mutation

Incidental Mutation 'R2438:Defb21'

249695

Institutional Source

Beutler Lab

Gene Symbol

Defb21

Ensembl Gene

ENSMUSG00000056544

Gene Name

defensin beta 21

Synonyms

4930525K10Rik, LOC228782

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R2438 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152414664-152416864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152416695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 57 (Y57F)

Ref Sequence

ENSEMBL: ENSMUSP00000065102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053180] [ENSMUST00000070722]

AlphaFold

Q8C5Z4

Predicted Effect

probably benign
Transcript: ENSMUST00000053180

SMART Domains

Protein: ENSMUSP00000059585
Gene: ENSMUSG00000050645

Domain	Start	End	E-Value	Type
Pfam:Defensin_big	2	60	3.4e-9	PFAM
Pfam:Defensin_beta_2	26	55	5.1e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070722
AA Change: Y57F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000065102
Gene: ENSMUSG00000056544
AA Change: Y57F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Defensin_beta_2	33	62	1.4e-9	PFAM
low complexity region	76	86	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,936,133 (GRCm39)	V318A	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cd8b1	A	G	6: 71,306,740 (GRCm39)	K156E	probably damaging	Het
Ckap5	T	C	2: 91,425,753 (GRCm39)	M1262T	possibly damaging	Het
Crebbp	A	G	16: 3,972,722 (GRCm39)	M324T	possibly damaging	Het
Cwf19l1	G	A	19: 44,099,002 (GRCm39)	R523C	probably benign	Het
Ebf2	T	A	14: 67,625,391 (GRCm39)	V233D	probably damaging	Het
Gfpt1	A	T	6: 87,034,727 (GRCm39)	E175V	probably null	Het
Gga1	T	C	15: 78,769,498 (GRCm39)	F157S	probably damaging	Het
Impdh2	A	T	9: 108,437,815 (GRCm39)	D28V	probably benign	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Krt5	T	C	15: 101,620,093 (GRCm39)	N208S	probably benign	Het
Matcap2	T	C	9: 22,342,979 (GRCm39)	V291A	probably damaging	Het
Myo15a	A	T	11: 60,373,878 (GRCm39)	I1242F	probably damaging	Het
Myo1g	A	T	11: 6,461,542 (GRCm39)	N636K	probably damaging	Het
Nrros	T	C	16: 31,962,929 (GRCm39)		probably null	Het
Nrros	C	T	16: 31,963,117 (GRCm39)	G264D	probably benign	Het
Nsun4	A	G	4: 115,905,794 (GRCm39)	V54A	probably benign	Het
Or4k49	A	T	2: 111,495,096 (GRCm39)	D175V	probably damaging	Het
Or5b105	A	T	19: 13,079,785 (GRCm39)	D294E	probably benign	Het
Pilrb2	T	A	5: 137,869,175 (GRCm39)	I142L	probably benign	Het
Ryr2	A	G	13: 11,816,734 (GRCm39)	S596P	probably damaging	Het
Sema5a	G	T	15: 32,550,399 (GRCm39)	S146I	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc43a2	A	T	11: 75,453,957 (GRCm39)	E290V	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Zfp456	A	T	13: 67,515,073 (GRCm39)	I211N	probably damaging	Het

Other mutations in Defb21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Defb21	APN	2	152,416,712 (GRCm39)	missense	probably benign	0.33
IGL00795:Defb21	APN	2	152,416,665 (GRCm39)	missense	probably benign	0.00
IGL01301:Defb21	APN	2	152,416,671 (GRCm39)	missense	possibly damaging	0.85
IGL01686:Defb21	APN	2	152,416,821 (GRCm39)	unclassified	probably benign
ANU18:Defb21	UTSW	2	152,416,671 (GRCm39)	missense	possibly damaging	0.85
R2305:Defb21	UTSW	2	152,416,791 (GRCm39)	missense	possibly damaging	0.96
R6805:Defb21	UTSW	2	152,416,789 (GRCm39)	missense	probably benign	0.01
R8924:Defb21	UTSW	2	152,416,704 (GRCm39)	missense	possibly damaging	0.51
X0063:Defb21	UTSW	2	152,415,752 (GRCm39)	unclassified	probably benign
Z1176:Defb21	UTSW	2	152,415,753 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATTATCAAACTGCAGCTAGGAGG -3'
(R):5'- AAACTTCAGGGACAGGGCTC -3'

Sequencing Primer
(F):5'- CTAAGGGCTGTGTCCTGC -3'
(R):5'- TCCAGCCACCTCTCAGG -3'

Posted On

2014-11-12